• Gene id: 51560

Gene Summary

• Gene Symbol: RAB6B   Gene   UCSC   Ensembl
• Gene name: RAB6B, member RAS oncogene family
• Alternate names: ras-related protein Rab-6B, small GTP-binding protein, small GTPase RAB6B,
• Gene location: 3q22.1 (133895881: 133824234)     Exons: 9     NC_000003.12
• OMIM: 615852

Protein Summary

• Protein general information: Q9NRW1  
  • Name: Ras related protein Rab 6B
  • Length: 208  
  • Mass: 23462
  • Tissue specificity: Predominantly expressed in brain.
• Sequence:

  MSAGGDFGNPLRKFKLVFLGEQSVGKTSLITRFMYDSFDNTYQATIGIDFLSKTMYLEDRTVRLQLWDTAGQERF
  RSLIPSYIRDSTVAVVVYDITNLNSFQQTSKWIDDVRTERGSDVIIMLVGNKTDLADKRQITIEEGEQRAKELSV
  MFIETSAKTGYNVKQLFRRVASALPGMENVQEKSKEGMIDIKLDKPQEPPASEGGCSC

• Structural information:
  • Interpro: IPR027417  IPR005225  IPR001806  
  • Prosite: PS51419
  • PDB: 2E9S 2FE4 2FFQ
  • PDBsum: 2E9S 2FE4 2FFQ
  • STRING: ENSP00000285208
• Other Databases: GeneCards:  RAB6B  Malacards:  RAB6B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006886	intracellular protein transport	IBA	biological process
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA	biological process
GO:0042147	retrograde transport, endosome to Golgi	IBA	biological process
GO:0003924	GTPase activity	IBA	molecular function
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0006891	intra-Golgi vesicle-mediated transport	IBA	biological process
GO:0012505	endomembrane system	IBA	cellular component
GO:0032482	Rab protein signal transduction	IBA	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098793	presynapse	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	NAS	biological process
GO:0031489	myosin V binding	IPI	molecular function
GO:0005794	Golgi apparatus	NAS	cellular component
GO:0003924	GTPase activity	NAS	molecular function

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray